Ocular cicatricial pemphigoid (OCP) is a chronic bilateral, blinding, cicatrizing form of conjunctivitis with relapsing and remitting periods. It has strong evidence for an immune type II hypersensitivity that leads to subconjunctival fibrosis and extensive systemic bullae formation. To the best knowledge of the authors, this is the first reported case of direct immunofluorescence (DIF) assay-proven OCP in an elderly Filipino man.

A 68-year-old male presented with bilateral corneal conjunctivalization, symblepharon, ectropion, conjunctival hyperemia testing positive with conjunctival biopsy for basement membrane antibodies with DIF for the left eye, while turning out negative for the right eye. He was managed as a case of OCP, both eyes, and was given topical steroids and antibiotics. Oral Dapsone was started by Dermatology and Rheumatology Services.

OCP is a rare autoimmune and blinding disease. Early diagnosis and prompt treatment are vital as ocular complications permanently affect the quality of life of patients as seen in our patient. DIF assay remains the gold-standard for diagnosis. Systemic immunosuppression is the mainstay of treatment. Adjunctive supportive topical medication may be given to alleviate ocular discomfort. A multidisciplinary approach is essential to provide holistic care to each patient.

BACKGROUND

Six-pyruvoyl-tetrahydrobiopterin synthase (6-PTPS) deficiency is an inherited metabolic disorder which results in tetrahydrobiopterin (BH4) deficiency causing hyperphenylalaninemia.

This study aimed to describe the clinical, biochemical, and radiologic profiles, and neurologic and developmental outcomes of patients diagnosed with 6-pyruvoyl tetrahydrobiopterin (PTPS) deficiency through newborn screening and confirmed by BH4 loading test, pterin analysis, and gene sequencing who were following-up with the metabolic team.

The research was a single-center descriptive case series study design that was done at the Philippine General Hospital, a tertiary government hospital. The clinical, biochemical, radiologic profiles and neurodevelopmental evaluation of each patient were described.

Nine patients from 1 year 2 months to 14 years 5 months of age were enrolled in the study. Clinical manifestations before treatment were hypotonia, poor suck, and seizure. The most common clinical manifestation even after treatment initiation was seizure. The mean phenylalanine level on newborn screening was 990.68 umol/L, but after treatment was started, mean levels ranged from 75.69 to 385.09 umol/L. Two of the patients had focal atrophy of the posterior lobe on brain imaging. Pathogenic variants on molecular analysis were all missense, with two predominant variants, c.155A>G and c.58T>C. Eight of the nine patients had varying degrees of developmental delay or intellectual disability, while the remaining patient had signs of a learning disorder.

Newborn screening has played a crucial role in the early identification and management of patients with hyperphenylalaninemia due to 6-PTPS deficiency. Confirmation of diagnosis through determination of DHPR activity, urine pterins and/or molecular analysis is necessary for appropriate management. However, despite early initiation of treatment, neurodevelopmental findings of patients with 6-PTPS deficiency were still unsatisfactory.

Glycogen storage disease type Ⅱ （GSD Ⅱ）， also known as Pompe disease， is a common autosomal recessive lysosomal storage disease with predominantly muscle tissue involvement， and it is caused by defects in the GAA gene which encode acid α-D-glucosidase in lysosomes. According to the age of onset and the main organs involved， it is classified into infant-onset Pompe disease （IOPD） and late-onset Pompe disease（LOPD）. The diagnosis of this disease depends on the reduction in GAA enzyme activity， the detection of GAA gene mutations， and muscle tissue biopsy， and early diagnosis and treatment are crucial for prognosis. Recombinant human GAA（rhGAA） enzyme replacement therapy prepared by the gene recombination technology is currently the main disease-modifying treatment method for Pompe disease， among which the earliest drug alglucosidase α has shown good efficacy in improving muscle strength and respiratory function and prolonging survival time， and the new-generation rhGAA drugs avalglucosidase α and cipaglucosidase alfa provide new options， especially for patients with poor outcomes and severe symptoms. Substrate ablation therapy and gene therapy are still under exploration， and disease-modifying therapies combined with nutritional and exercise therapies and multidisciplinary long-term management will achieve twice the result with half the effort.
Diagnosis

Mitochondrial diseases are a group of hereditary disorders characterized by impaired oxidative phosphorylation in the mitochondrial respiratory chain caused by defects in either mitochondrial DNA or nuclear DNA， and such diseases have complex and diverse clinical manifestations and often involve multiple organs and systems， with the main manifestation of lesions in the nervous system and muscles due to their high energy demands. At present， there is still a lack of effective therapies for most mitochondrial diseases， and therefore， multidisciplinary management is essential in clinical practice， integrating various therapeutic approaches to provide personalized treatment regimens for patients with mitochondrial diseases. The primary treatment principle involves the timely correction of pathological and physiological abnormalities through pharmacological interventions， dietary modifications， and exercise management， along with the prompt treatment of system-specific impairments and the prevention of potential complications.
Diagnosis

Migraine is the most common neurological disorder with the highest disease burden， while the current outpatient diagnosis and treatment model cannot meet the requirements for reducing the disease burden of migraine， and it is necessary to reexamine its management from a patient-centered perspective. It should be recognized that the course of migraine is a dynamic process，and some clinical manifestations that are not included in the diagnostic criteria are meaningful for diagnosis.Several risk factors for the chronicity of migraine have been identified.In addition， various comorbidities can also affect diagnosis and treatment，and it is still unable to reliably predict the treatment response of migraine.Therefore， the management of migraine requires continuous revision of diagnosis and “trial-and-error” treatment.
Diagnosis

Nonconvulsive status epilepticus （NCSE） is a state of persistent epileptic seizure characterized by disturbance of consciousness or major neurological deficits， without obvious limb convulsions. Due to a lack of obvious clinical manifestations and the potential risk of neurological damage， current research focuses on rapid identification， accurate classification， and optimization of treatment strategies. Since there is a lack of obvious motor symptoms in NCSE， it is difficult for clinicians to quickly identify the disease through traditional signs， which poses great challenges to diagnosis， and underdiagnosis may lead to delayed treatment and poor prognosis. This article systematically reviews the epidemiological characteristics， clinical manifestations， and key diagnostic points of NCSE and discusses existing treatment regimens and prognosis， in order to provide a reference for clinical practice.
Diagnosis

BACKGROUND

Blood pressure is an important vital sign measured not only in hypertension but also among hospitalized patients for clinical evaluation of the actual hemodynamic status. In the digital era, mercury and aneroid sphygmomanometers are being replaced by automated monitors despite lacking validation and recommendations for their use, especially in acute illness.

To compare automated and manual blood pressure measurement among hospitalized medical patients with acute illness.

A crossover design was used in a single tertiary hospital. Blood pressure was recorded from 216 participants, with 432 observations from an automated monitor (Omron HBP1120) and a mercury sphygmomanometer. Automated and manual BP recordings were done twice following the same arm sequential method. The average of the two recordings was used for comparison.

Most participants were female, elderly, obese, and had cardiac complaints. Comparing automated and manual methods, the mean difference for systolic was 1.47 ± 12.12 (p = 0.08) and 1.82 ± 10.99 (p=0.02) for diastolic. Subgroup analysis revealed that males had higher manual systolic BP than females (pairwise p-value= 0.017). Overweight and obese participants had higher automated systolic and diastolic BP (p=0.04). Overweight and obese participants had significantly higher systolic and diastolic BP regardless of the method. Significantly higher diastolic BP for different age groups and areas of admission (p=0.02) were observed from the automated method.

Automated BP monitoring showed a significant difference in diastolic BP recordings. Automated BP monitors should be used with caution, especially in interpreting diastolic BP among hospitalized patients.

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